Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.91055665T>A | CA386013716 | KERA | c.617A>T (p.Asn206Ile) | ClinVar COSMIC |
12 | g.91055665T>C | CA386013717 | KERA | c.617A>G (p.Asn206Ser) | gnomAD v4 |
12 | g.91055665T>G | CA386013715 | KERA | c.617A>C (p.Asn206Thr) | |
12 | g.91055666T>A | CA386013718 | KERA | c.616A>T (p.Asn206Tyr) | |
12 | g.91055666T>C | CA6716536 | KERA | c.616A>G (p.Asn206Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.91055666T>G | CA386013719 | KERA | c.616A>C (p.Asn206His) | gnomAD v4 |
12 | g.91055666T= | CA2054259715 | KERA | c.616A= (p.Asn206=) | |
12 | g.91055667C>A | CA386013720 | KERA | c.615G>T (p.Arg205Ser) | COSMIC |
12 | g.91055667C= | CA2054259716 | KERA | c.615G= (p.Arg205=) | |
12 | g.91055667C>G | CA386013721 | KERA | c.615G>C (p.Arg205Ser) | |
12 | g.91055667C>T | CA6716537 | KERA | c.615G>A (p.Arg205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055668C>A | CA386013722 | KERA | c.614G>T (p.Arg205Met) | |
12 | g.91055668C= | CA2054259717 | KERA | c.614G= (p.Arg205=) | |
12 | g.91055668C>G | CA386013723 | KERA | c.614G>C (p.Arg205Thr) | |
12 | g.91055668C>T | CA241201375 | KERA | c.614G>A (p.Arg205Lys) | dbSNP gnomAD v4 |
12 | g.91055669T>A | CA386013724 | KERA | c.613A>T (p.Arg205Trp) | |
12 | g.91055669T>C | CA386013725 | KERA | c.613A>G (p.Arg205Gly) | |
12 | g.91055669T>G | CA241201380 | KERA | c.613A>C (p.Arg205=) | dbSNP gnomAD v4 |
12 | g.91055669T= | CA2054259718 | KERA | c.613A= (p.Arg205=) | |
12 | g.91055670C>A | CA481306623 | KERA | c.612G>T (p.Leu204=) | |
12 | g.91055670C>G | CA481306624 | KERA | c.612G>C (p.Leu204=) | |
12 | g.91055670C>T | CA481306626 | KERA | c.612G>A (p.Leu204=) | |
12 | g.91055671A>C | CA386013726 | KERA | c.611T>G (p.Leu204Arg) | |
12 | g.91055671A>G | CA386013727 | KERA | c.611T>C (p.Leu204Pro) | |
12 | g.91055671A>T | CA386013728 | KERA | c.611T>A (p.Leu204Gln) | |
12 | g.91055672G>A | CA481306637 | KERA | c.610C>T (p.Leu204=) | |
12 | g.91055672G>C | CA386013729 | KERA | c.610C>G (p.Leu204Val) | |
12 | g.91055672G>T | CA386013730 | KERA | c.610C>A (p.Leu204Met) | |
12 | g.91055673G>A | CA481306639 | KERA | c.609C>T (p.Ala203=) | |
12 | g.91055673G>C | CA481306641 | KERA | c.609C>G (p.Ala203=) | |
12 | g.91055673G>T | CA481306642 | KERA | c.609C>A (p.Ala203=) | |
12 | g.91055674G>A | CA386013731 | KERA | c.608C>T (p.Ala203Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055674G>C | CA386013732 | KERA | c.608C>G (p.Ala203Gly) | |
12 | g.91055674G= | CA2054259719 | KERA | c.608C= (p.Ala203=) | |
12 | g.91055674G>T | CA386013733 | KERA | c.608C>A (p.Ala203Asp) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055675C>A | CA386013734 | KERA | c.607G>T (p.Ala203Ser) | |
12 | g.91055675C= | CA2054259720 | KERA | c.607G= (p.Ala203=) | |
12 | g.91055675C>G | CA386013735 | KERA | c.607G>C (p.Ala203Pro) | |
12 | g.91055675C>T | CA386013736 | KERA | c.607G>A (p.Ala203Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055676A= | CA2054259722 | KERA | c.606T= (p.Asn202=) | |
12 | g.91055676A>C | CA386013737 | KERA | c.606T>G (p.Asn202Lys) | |
12 | g.91055676A>G | CA481306655 | KERA | c.606T>C (p.Asn202=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055676A>T | CA386013738 | KERA | c.606T>A (p.Asn202Lys) | |
12 | g.91055677T>A | CA386013741 | KERA | c.605A>T (p.Asn202Ile) | |
12 | g.91055677T>C | CA386013740 | KERA | c.605A>G (p.Asn202Ser) | dbSNP gnomAD v4 |
12 | g.91055677T>G | CA386013739 | KERA | c.605A>C (p.Asn202Thr) | |
12 | g.91055678T>A | CA386013742 | KERA | c.604A>T (p.Asn202Tyr) | |
12 | g.91055678T>C | CA386013743 | KERA | c.604A>G (p.Asn202Asp) | |
12 | g.91055678T>G | CA386013744 | KERA | c.604A>C (p.Asn202His) | |
12 | g.91055679C>A | CA386013745 | KERA | c.603G>T (p.Lys201Asn) |